Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

The expanded HTT CAG repeat causing Huntington’s disease (HD) exhibits somatic expansion proposed to drive the rate of disease onset by eliciting a pathological process that ultimately claims vulnerable cells. To gain insight into somatic expansion in humans, we performed comprehensive quantitative...

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Pubblicato in:Hum Mol Genet
Autori principali: Mouro Pinto, Ricardo, Arning, Larissa, Giordano, James V, Razghandi, Pedram, Andrew, Marissa A, Gillis, Tammy, Correia, Kevin, Mysore, Jayalakshmi S, Grote Urtubey, Debora-M, Parwez, Constanze R, von Hein, Sarah M, Clark, H Brent, Nguyen, Huu Phuc, Förster, Eckart, Beller, Allison, Jayadaev, Suman, Keene, C Dirk, Bird, Thomas D, Lucente, Diane, Vonsattel, Jean-Paul, Orr, Harry, Saft, Carsten, Petrasch-Parwez, Elisabeth, Wheeler, Vanessa C
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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General Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7471505/
https://ncbi.nlm.nih.gov/pubmed/32761094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa139
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